Cole S A, Szathmary E J, Ferrell R E
Human Genetics Division, Graduate School of Public Health, University of Pittsburgh, PA 15261.
Am J Hum Genet. 1989 Jun;44(6):835-43.
The Dogrib, an Amerindian tribe residing in the Northwest Territories of Canada, were typed for DNA and protein polymorphism at the apolipoprotein A-I/C-III/A-IV gene cluster. Variation was seen at three previously described RFLPs detected with the enzymes SstI, PstI, and XmnI, though frequencies of these polymorphisms differ significantly from those reported in other populations. They exhibit no variation at two previously reported PvuII sites. No variation was seen in the APO A-I or APO A-IV gene products, with the Dogrib showing the most common isoelectric-focusing/immunoblot patterns of other world populations. Haplotype frequencies computed from inferred haplotypes and by maximum likelihood estimation did not differ significantly. The extent of nonrandom association of these sites is highly significant (P less than .00001), though pairwise analysis shows significance between the SstI and XmnI sites only. Levels of fasting triglyceride and fasting total cholesterol were determined for each individual. Analysis of covariance shows that fasting triglyceride levels in women vary significantly with the XmnI genotype. These results suggest that genetic variation at the APO A-I/C-III/A-IV gene cluster may be a useful tool for the study of quantitative lipoprotein variation in the Dogrib.
多格里布人是居住在加拿大西北地区的一个美洲印第安部落,对其载脂蛋白A-I/C-III/A-IV基因簇的DNA和蛋白质多态性进行了分型。在用SstI、PstI和XmnI酶检测的三个先前描述的限制性片段长度多态性(RFLP)中发现了变异,尽管这些多态性的频率与其他人群中报告的频率有显著差异。在两个先前报告的PvuII位点未发现变异。在载脂蛋白A-I或载脂蛋白A-IV基因产物中未发现变异,多格里布人显示出世界其他人群中最常见的等电聚焦/免疫印迹模式。根据推断的单倍型和通过最大似然估计计算的单倍型频率没有显著差异。这些位点的非随机关联程度非常显著(P小于0.00001),尽管成对分析仅显示SstI和XmnI位点之间具有显著性。测定了每个个体的空腹甘油三酯水平和空腹总胆固醇水平。协方差分析表明,女性的空腹甘油三酯水平随XmnI基因型有显著变化。这些结果表明,载脂蛋白A-I/C-III/A-IV基因簇的遗传变异可能是研究多格里布人定量脂蛋白变异的有用工具。